MIR6886[gene] - ClinVar

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Search results

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 662848	NC_000019.10:g.(?_11100213)_(11117013_?)del	LDLR, MIR6886	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 251054	NM_000527.4(LDLR):c.190+984_1846-1160del	LDLR, MIR6886	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251409	NM_000527.5(LDLR):c.695-67_1586+371del	LDLR, MIR6886	Deletion (splice acceptor variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251546	c.941-2966_*2583+4485del	LDLR, MIR6886	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 3716	FH Osaka 2	LDLR, MIR6886	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 456643	NC_000019.10:g.(?_11110632)_(11117018_?)del	LDLR, MIR6886	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 526768	NC_000019.10:g.(?_11111494)_(11113782_?)del	LDLR, MIR6886	Deletion	Hypercholesterolemia, familial, 1 +1 more	GPathogenic
Select item 640998	NC_000019.10:g.(?_11111504)_(11117013_?)del	LDLR, MIR6886	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 264663	NC_000019.10:g.11111514_11116998del	LDLR, MIR6886	Deletion	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 250921	NG_009060.1(LDLR):g.[27134_32618del5485;4982_15965del10984]	LDLR, MIR6886 +3 more	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 264662	Single allele	LDLR, MIR6886	Duplication	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 250922	NG_009060.1(LDLR):g.[18284_22307del4024;27134_45290dup18157]	LDLR, MIR6886	Duplication (splice acceptor variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251711	NM_000527.4(LDLR):c.1186+700_2141-545del	LDLR, MIR6886	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251712	NM_000527.4(LDLR):c.1187-169_2312-790del	LDLR, MIR6886	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 583897	NC_000019.9:g.(?_11223934)_(11227694_?)dup	LDLR, MIR6886	Duplication	Hypercholesterolemia, familial, 1	GPathogenic
Select item 583555	NC_000019.10:g.(?_11113272)_(11120528_?)del	LDLR, MIR6886	Deletion	Familial hypercholesterolemia +1 more	GPathogenic
Select item 417371	NC_000019.10:g.(?_11113278)_(11133830_?)del	LDLR, MIR6886	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251726	NM_000527.5(LDLR):c.1197_2205del (p.Ala399_Tyr400insTer)	LDLR, MIR6886	Deletion (frameshift variant +2 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 654906	NM_000527.5(LDLR):c.1357_1359-37del	LDLR, MIR6886	Deletion (splice donor variant)	Familial hypercholesterolemia	GLikely pathogenic
Select item 413776	NM_000527.5(LDLR):c.1358+32C>T	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +2 more	GBenign
Select item 3072455	NM_000527.5(LDLR):c.1359-31G>C	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 440636	NM_000527.5(LDLR):c.1359-31G>A	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GLikely benign
Select item 251805	NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT	MIR6886, LDLR	Indel (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 3072454	NM_000527.5(LDLR):c.1359-30C>G	MIR6886, LDLR	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 2773512	NM_000527.5(LDLR):c.1359-30C>A	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GUncertain significance
Select item 251806	NM_000527.5(LDLR):c.1359-30C>T	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GBenign
Select item 3072042	NM_000527.5(LDLR):c.1359-27_1359-3dup	LDLR, MIR6886	Duplication (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 2773513	NM_000527.5(LDLR):c.1359-29G>C	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GLikely benign
Select item 251807	NM_000527.5(LDLR):c.1359-29G>A	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +1 more	GLikely benign
Select item 3069516	NM_000527.5(LDLR):c.1359-28C>A	MIR6886, LDLR	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 441213	NM_000527.5(LDLR):c.1359-27T>G	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 2773514	NM_000527.5(LDLR):c.1359-26_1359-23del	MIR6886, LDLR	Deletion (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 922094	NM_000527.5(LDLR):c.1359-26G>A	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GLikely benign
Select item 430775	NM_000527.5(LDLR):c.1359-25A>G	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 2862711	NM_000527.5(LDLR):c.1359-20C>T	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GLikely benign
Select item 3071542	NM_000527.5(LDLR):c.1359-10_1359-8del	LDLR, MIR6886	Microsatellite (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 2773515	NM_000527.5(LDLR):c.1359-14del	LDLR, MIR6886	Deletion (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GUncertain significance
Select item 926244	NM_000527.5(LDLR):c.1359-14T>G	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GLikely benign
Select item 2893601	NM_000527.5(LDLR):c.1359-13C>A	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GLikely benign
Select item 256366	NM_000527.5(LDLR):c.1359-13C>T	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +2 more	GLikely benign
Select item 926525	NM_000527.5(LDLR):c.1359-10C>T	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GLikely benign
Select item 2911838	NM_000527.5(LDLR):c.1359-6C>A	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GLikely benign
Select item 431527	NM_000527.5(LDLR):c.1359-6C>T	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
Select item 1543738	NM_000527.5(LDLR):c.1359-5C>T	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GLikely benign
Select item 251808	NM_000527.5(LDLR):c.1359-5C>G	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 251809	NM_000527.5(LDLR):c.1359-4T>C	MIR6886, LDLR	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 251810	NM_000527.5(LDLR):c.1359-3C>T	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GConflicting classifications of pathogenicity
Select item 251811	NM_000527.5(LDLR):c.1359-1G>C	MIR6886, LDLR	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 162499	NM_000527.5(LDLR):c.1359-1G>A	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database

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Items: 53